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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERPINB8

SERPINB8

58 papers

RefSeq Summary

The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a se...

Pfam Domains

Serpinaa 6–249UCSCSerpin (serine protease inhibitor)

Serpinaa 6–374UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family B member 8

HGNC Previous Symbol

PI8

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 67 variants

8 papers

chr18:63987003 C>T

NM_002640.4

p.R284*

c.850C>T

Serpin

Exome: 0.0% (AC=671, hom=2)Genome: 0.0% (AC=58, hom=0)22 overlapping SVs

4 papers

chr18:63978310 T>C

NM_002640.4

p.M1T

c.2T>C

Exome: 0.0% (AC=107, hom=0)Genome: 0.0% (AC=2, hom=0)23 overlapping SVs

3 papers

chr18:63987098 CA>C

NM_002640.4

p.K316delFs

c.947delA

Serpin

Exome: 0.0% (AC=49, hom=0)Genome: 0.0% (AC=49, hom=0)22 overlapping SVs

3 papers

chr18:63987099 AAG>N

NM_002640.4

p.K316fs

c.946_947fs

Serpin

exact variant not in gnomAD22 overlapping SVs

2 papers

chr18:63978363 T>C

NM_002640.4

p.L19L

c.55T>C

Serpin

Exome: 0.0% (AC=29, hom=0)Genome: n/a23 overlapping SVs

2 papers

chr18:63979835 G>A

NM_002640.4

p.R68Q

c.203G>A

Serpin

Exome: 28.6% (AC=417264, hom=62309)Genome: 36.0% (AC=54766, hom=11361)23 overlapping SVs

2 papers

chr18:63987063 A>G

NM_002640.4

p.T304A

c.910A>G

Serpin

Exome: 9.8% (AC=143220, hom=8606)Genome: 12.7% (AC=19375, hom=1594)22 overlapping SVs

2 papers

chr18:63987229 A>G

NM_002640.4

p.H359R

c.1076A>G

Serpin

Exome: 58.2% (AC=850549, hom=249792)Genome: 53.4% (AC=81166, hom=22355)22 overlapping SVs

1 paper

chr18:63978309 A>G

NM_002640.4

p.M1V

c.1A>G

exact variant not in gnomAD23 overlapping SVs

1 paper

chr18:63978310 T>A

NM_002640.4

p.M1K

c.2T>A

exact variant not in gnomAD23 overlapping SVs

1 paper

chr18:63978313 A>G

NM_002640.4

p.D2G

c.5A>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a23 overlapping SVs

1 paper

chr18:63978365 GGGGGAAGAGGACA>G

NM_002640.4

p.G20_N24delFs

c.58_70del13

Serpin

exact variant not in gnomAD23 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."